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Terminology chevron_right Concepts chevron_right 190745006

Production

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

Galactosemia (disorder)

Shortest Term

Galactosemia

Definition Status

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Galactosemia (disorder)

SCTID: 190745006, Primitive, Active

190745006|Galactosemia (disorder)|

Expression

190745006 |Galactosemia (disorder)|
 <<< 237963003 |Disorder of galactose metabolism (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
293192017 - Galactosaemia (en) View
293192017	en	Synonym (core metadata concept)	Galactosaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
293193010 - Galactosemia (en) View
293193010	en	Synonym (core metadata concept)	Galactosemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
574365010 - Galactosemia (disorder) (en) View
574365010	en	Fully specified name (core metadata concept)	Galactosemia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (462388027) - 190745006 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (19227020) - 190745006 -> 237963003 (116680003) View
116680003 \|Is a (attribute)\|	237963003 \|Disorder of galactose metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
237963003 View
237963003	Disorder of galactose metabolism (disorder)	Galactose metabolism disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1187616008 View
1187616008	Deficiency of galactose mutarotase (disorder)	Galactosemia type 4	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
8849004 View
8849004	Uridine diphosphate glucose-4-epimerase deficiency (disorder)	Gale	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
124302001 View
124302001	Deficiency of galactokinase (disorder)	Galk	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
124354006 View
124354006	Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder)	Galt deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (ba43ffb9-d6ee-5065-8a1c-a2edad43265e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E74.2	TRUE	ALWAYS E74.2	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

Descriptions